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News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
News Release
Genome: Unlocking Life's Code exhibition is going on tour after having completed a 14-month engagement at the Smithsonian's National Museum of Natural History.
… eye-catching models, interactive displays and engaging elements, the Genome: Unlocking Life's Code exhibition is …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… the three species, the model organism ENCyclopedia Of DNA Elements (modENCODE) Consortium studied how gene expression … goal of modENCODE is to create a comprehensive catalog of functional elements in the fruit fly and roundworm genomes … Project, which is building a comprehensive catalog of functional elements in the human and mouse genomes. "The …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 gene into mice with the disease; … cells, the normal NPC1 gene was then able to make the functional NPC1 protein to correct the cell defects.  The gene therapy involved inserting a functional copy of the NPC1 gene into mice with the disease; …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… live for decades without developing symptoms of renal functional decline. People who have ADPKD have renal cysts in …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… Hao Wu, Ph.D., University of Pennsylvania 12:15 p.m. Lunch Functional Genomics Session Moderators: Vishnu Udayakumaran …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… which is part of the ENCODE, or ENCyclopedia Of DNA Elements, program supported by the National Human Genome … of Health. ENCODE is building a comprehensive catalog of functional elements in the human and mouse genomes. Such elements …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… said Mike Pazin, Ph.D., a program director in the Functional Analysis Program in NHGRI's Division of Genome … role in disease. Such regions likely contain gene-control elements that are altered by these variants, which increase … disease. "Knowing the interconnections of these regulatory elements is critical for understanding the genomic basis of …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule … of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule …
Research Funding
Frequently Asked Questions for IGVF RFAs: RFA-HG-20-043, RFA-HG-20-044, RFA-HG-20-045, RFA-HG-20-046, RFA-HG-20-047
… be well-justified. Can applicants propose to perform functional validation studies within their Mapping Centers? No. Functional validation and characterization are out of scope for this initiative. Candidate functional elements identified by Mapping Centers may be tested in later …